Methylation study of the BRCA1, GSTP1 and CST6 genes in samples of breast cancer patients

Postgraduate Thesis uoadl:2879121 302 Read counter

Unit:
Κατεύθυνση Κλινική Χημεία
Library of the School of Science
Deposit date:
2019-07-17
Year:
2019
Author:
Gjordumi Ailda
Supervisors info:
Ευρύκλεια Λιανίδου, Καθηγήτρια, Τμήμα Χημείας, ΕΚΠΑ
Original Title:
Μελέτη μεθυλίωσης των γονιδίων BRCA1, GSTP1 και CST6 σε δείγματα ασθενών με καρκίνο του μαστού
Languages:
Greek
Translated title:
Methylation study of the BRCA1, GSTP1 and CST6 genes in samples of breast cancer patients
Summary:
Cancer is a pathological disease of our time and metastasis is the leading cause of death
in cancer patients. The detection of circulating tumor cells (CTCs) and circulating
tumor DNA (ctDNA) through liquid biopsy is a modern, reliable and non-invasive tool
for early diagnosis, prognosis and treatment of cancer.
Breast cancer has been studied more than any other form of cancer and is the main type
of cancer that plagues the female population. Early diagnosis is critical to cure. The
discovery of biomarkers in the plasma of patients is considered necessary for the timely
diagnosis of the disease, the risk assessment and for the administration of individualized
treatment.
Methylation of DNA naturally assures chromosomal stability of the genome. However,
hypomethylation of oncogenic primers and hypermethylation of tumor suppressor
primers have been associated with oncogene activation and silencing of tumor
suppressor genes, respectively.
The purpose of this study is to study the methylation of BRCA1, GSTP1 and CST6 genes
in samples of breast cancer patients. For this purpose, MSP developed real-time MSP
methods. For the study of methylation of the GSTP1 gene, 82 converted DNA samples
were used, of which 24 normal samples, 24 samples from the primary tumor, 34 from
CTCs from metastatic cancer and found no methylated to normal (0.0%), one positive
for the samples primary volume (4.17%) and no CTCs positive (0.0%). For the study
of BRCA1 methylation, 53 samples of converted DNA were used, of which 14 normal
samples, 24 samples of CTCs from metastatic cancer, and 15 samples of ctDNA from
metastatic cancer and found no positive for normal (0.0%), a positive for CTCs (4.17%)
and none in ctDNA (0.0%). Finally, 24 samples of converted cDNA DNA were used to
study the methylation of CST6 and 5 positive (20.38%) were found. The samples have
been isolated, converted and checked for quality earlier from other lab members.
Main subject category:
Science
Keywords:
Methylation of DNA, BRCA1, GSTP1, CST6, MSP, real-time MSP, circulating cancer cells (CTCs), circulating tumor DNA (ctDNA)
Index:
Yes
Number of index pages:
9
Contains images:
Yes
Number of references:
337
Number of pages:
174
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